<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0019390"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#"
     xmlns:owl="http://www.w3.org/2002/07/owl#"
     xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"
     xmlns:xsd="http://www.w3.org/2001/XMLSchema#"
     xmlns:skos="http://www.w3.org/2004/02/skos/core#"
     xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:ns4="http://purl.obolibrary.org/obo/mondo#"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#otar"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#curated_content_resource"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#closeMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Datatypes
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Classes
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002254">
        <rdfs:label>syndromic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0007179 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007179">
        <rdfs:label>autoimmune disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019390 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019390">
        <rdfs:label>Susac syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0007179"/>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/susac_syndrome</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>Retinocochleocerebral vasculopathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>EFO:1001856</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C2717757</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:1292480458</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>retinopathy-encephalopathy-deafness associated with microangiopathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>SICRET syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0007713</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:838</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NORD:1747</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:D055955</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:348.39</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>MEDGEN:439270</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:702575003</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>RED-M</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MedDRA:10071573</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0019390</oboInOwl:id>
        <oboInOwl:hasExactSynonym>small infarctions of cochlear, retinal and encephalic tissue</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NCIT:C116363</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1292480458"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10071573"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/439270"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D055955"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/702575003"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2717757"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C116363"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="http://www.ebi.ac.uk/efo/EFO_1001856"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_838"/>
    </Class>
</rdf:RDF>



<!-- Generated by the OWL API (version 3.2.4.1806) http://owlapi.sourceforge.net -->



